rs201082652
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201082652(G;T) |
| Make rs201082652(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132370336 |
| Gene | LOC553103, SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201082652 |
| dbSNP (classic) | rs201082652 |
| ClinGen | rs201082652 |
| ebi | rs201082652 |
| HLI | rs201082652 |
| Exac | rs201082652 |
| Gnomad | rs201082652 |
| Varsome | rs201082652 |
| LitVar | rs201082652 |
| Map | rs201082652 |
| PheGenI | rs201082652 |
| Biobank | rs201082652 |
| 1000 genomes | rs201082652 |
| hgdp | rs201082652 |
| ensembl | rs201082652 |
| geneview | rs201082652 |
| scholar | rs201082652 |
| rs201082652 | |
| pharmgkb | rs201082652 |
| gwascentral | rs201082652 |
| openSNP | rs201082652 |
| 23andMe | rs201082652 |
| SNPshot | rs201082652 |
| SNPdbe | rs201082652 |
| MSV3d | rs201082652 |
| GWAS Ctlg | rs201082652 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201082652(T;T) |
| Alt | rs201082652(T;T) |
| Reference | Rs201082652(G;G) |
| Significance | Pathogenic |
| Disease | Renal carnitine transport defect not provided |
| Variation | info |
| Gene | LOC553103 SLC22A5 |
| CLNDBN | Renal carnitine transport defect not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131706028G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000022318.3, RCV000186160.3, |
